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首页> 外文期刊>Journal of Clinical and Diagnostic Research >A Case of Diamond Blackfan Anemia (DBA) with Mutation in Ribosomal Protein S19
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A Case of Diamond Blackfan Anemia (DBA) with Mutation in Ribosomal Protein S19

机译：核糖体蛋白S19突变的钻石Blackfan贫血（DBA）一例

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Diamond Blackfan Anemia (DBA) is a rare disorder which presents with anemia in early infancy. This disorder is genetically and clinically heterogeneous in nature. The inheritance is mainly autosomal dominant. Approximately 25% of the cases are associated with craniofacial anomalies and some cases may end up in malignancy. The diagnosis is made by blood investigations, and bone marrow studies in which red cell precursors are reduced or absent. Screening for the mutations including those encoding for ribosomal proteins in the patient and the family members confirms the diagnosis. Human Leukocyte Antigen (HLA) matched hemopoietic stem cell transplantation is the treatment of choice. In other cases, corticosteroids and cyclosporine A have been tried. The haemoglobin level is maintained with packed red cell transfusion. We are presenting here a female baby who had anemia at birth and was brought to us at the age of 2 months. The diagnosis of DBA was made since the patient presented with anemia and showed reticulocytopenia, gross reduction in Red Blood Cell (RBC) count, and reduction in red cell precursors in the bone marrow. Genetic screening revealed mutation in ribosomal protein S19 (RPS19) gene in both the infant and the father.
机译：钻石Blackfan贫血（DBA）是一种罕见的疾病，在婴儿早期会出现贫血。这种疾病本质上是遗传和临床异质的。遗传主要是常染色体显性。大约25％的病例与颅面畸形有关，有些病例可能会恶变。该诊断是通过血液检查和骨髓研究做出的，在这些研究中减少或不存在红细胞前体。在患者及其家属中筛选包括编码核糖体蛋白的突变在内的突变，可以确诊。人类白细胞抗原（HLA）匹配造血干细胞移植是治疗的选择。在其他情况下，已尝试使用皮质类固醇和环孢素A。血红蛋白水平通过红细胞充血维持。我们在这里介绍一个婴儿，她在出生时患有贫血并在2个月大时被带到我们这里。自从患者出现贫血并表现出网状细胞减少症，红细胞（RBC）总数明显减少以及骨髓中红细胞前体减少以来，就做出了DBA的诊断。基因筛查发现婴儿和父亲的核糖体蛋白S19（RPS19）基因均发生突变。

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